{
    "disease_id": "DOID:0060602",
    "recommended_name": {
        "id": "DOID:0060602",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060602",
        "name": "alpha-methylacyl-CoA racemase deficiency",
        "description": "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060602",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060602",
            "name": "AMACR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "alpha-methylacyl-CoA racemase deficiency",
            "description": "A rare disorder caused by mutation in the AMACR gene. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy."
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "ALPHA-methylacyl-CoA racemase deficiency; AMACRD",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "alpha-methylacyl-CoA racemase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "AMACR",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "AMACRD",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "AMACR deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013681",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013681",
            "name": "Amacr deficiency",
            "description": ""
        },
        {
            "id": "MIM:614307",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614307",
            "name": "Alpha-methylacyl-CoA racemase deficiency",
            "description": "Alpha-methylacyl-CoA racemase deficiency"
        }
    ]
}